Focus Quality Control 30 end mRNA processing: molecular mechanisms and implications for health and disease

Recent advances in the understanding of the molecular mechanism of mRNA 30 end processing have uncovered a previously unanticipated integrated network of trans-criptional and RNA-processing mechanisms. A variety of human diseases impressively reflect the importance of the precision of the complex 30 end-processing machinery and gene specific deregulation of 30 end processing can result from mutations of RNA sequence elements that bind key specific processing factors. Interestingly, more general deregulation of 30 end processing can be caused either by mutations of these processing factors or by the disturbance of the well-coordinated equilibrium between these factors. From a medical perspective, both loss of function and gain of function can be functionally relevant, and an increasing number of different disease entities exemplifies that in-appropriate 30 end formation of human mRNAs can have a tremendous impact on health and disease. Here, we review the mechanistic hallmarks of mRNA 30 end processing, highlight the medical relevance of deregulation of this important step of mRNA maturation and illustrate the implications for diagnostic and therapeutic strategies